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Items: 1 to 20 of 100

1.

Molecular findings in Beckwith-Wiedemann syndrome.

Choufani S, Shuman C, Weksberg R.

Am J Med Genet C Semin Med Genet. 2013 May;163C(2):131-40. doi: 10.1002/ajmg.c.31363. Epub 2013 Apr 16. Review.

PMID:
23592339
2.

Molecular biology of Beckwith-Wiedemann syndrome.

Weksberg R, Squire JA.

Med Pediatr Oncol. 1996 Nov;27(5):462-9. Review.

PMID:
8827075
3.

Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted.

Weksberg R, Teshima I, Williams BR, Greenberg CR, Pueschel SM, Chernos JE, Fowlow SB, Hoyme E, Anderson IJ, Whiteman DA, et al.

Hum Mol Genet. 1993 May;2(5):549-56.

PMID:
8518793
4.

Beckwith-Wiedemann syndrome.

Weksberg R, Shuman C, Smith AC.

Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):12-23. Review.

PMID:
16010676
5.
6.

Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development.

Weksberg R, Smith AC, Squire J, Sadowski P.

Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R61-8. Review.

PMID:
12668598
8.

Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.

Romanelli V, Meneses HN, Fernández L, Martínez-Glez V, Gracia-Bouthelier R, F Fraga M, Guillén E, Nevado J, Gean E, Martorell L, Marfil VE, García-Miñaur S, Lapunzina P.

Eur J Hum Genet. 2011 Apr;19(4):416-21. doi: 10.1038/ejhg.2010.236. Epub 2011 Jan 19.

9.

New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome.

Smith AC, Rubin T, Shuman C, Estabrooks L, Aylsworth AS, McDonald MT, Steele L, Ray PN, Weksberg R.

Cytogenet Genome Res. 2006;113(1-4):313-7.

PMID:
16575195
10.

The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region.

Rossignol S, Steunou V, Chalas C, Kerjean A, Rigolet M, Viegas-Pequignot E, Jouannet P, Le Bouc Y, Gicquel C.

J Med Genet. 2006 Dec;43(12):902-7. Epub 2006 Jul 6.

11.

Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith-Wiedemann syndrome.

Horike S, Mitsuya K, Meguro M, Kotobuki N, Kashiwagi A, Notsu T, Schulz TC, Shirayoshi Y, Oshimura M.

Hum Mol Genet. 2000 Sep 1;9(14):2075-83.

PMID:
10958646
12.

Beckwith-Wiedemann syndrome.

Choufani S, Shuman C, Weksberg R.

Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):343-54. doi: 10.1002/ajmg.c.30267. Review.

PMID:
20803657
13.

Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures.

Eggermann T.

Horm Res. 2009 Apr;71 Suppl 2:30-5. doi: 10.1159/000192433. Epub 2009 Apr 29. Review.

PMID:
19407494
14.

Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.

Gaston V, Le Bouc Y, Soupre V, Burglen L, Donadieu J, Oro H, Audry G, Vazquez MP, Gicquel C.

Eur J Hum Genet. 2001 Jun;9(6):409-18.

15.

Sequence-based structural features between Kvlqt1 and Tapa1 on mouse chromosome 7F4/F5 corresponding to the Beckwith-Wiedemann syndrome region on human 11p15.5: long-stretches of unusually well conserved intronic sequences of kvlqt1 between mouse and human.

Yatsuki H, Watanabe H, Hattori M, Joh K, Soejima H, Komoda H, Xin Z, Zhu X, Higashimoto K, Nishimura M, Kuratomi S, Sasaki H, Sakaki Y, Mukai T.

DNA Res. 2000 Jun 30;7(3):195-206.

PMID:
10907850
16.

Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome.

Reik W, Brown KW, Slatter RE, Sartori P, Elliott M, Maher ER.

Hum Mol Genet. 1994 Aug;3(8):1297-301.

PMID:
7987305
17.

Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.

Demars J, Gicquel C.

Clin Genet. 2012 Apr;81(4):350-61. doi: 10.1111/j.1399-0004.2011.01822.x. Epub 2012 Jan 16. Review.

PMID:
22150955
18.

Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth.

Jacob KJ, Robinson WP, Lefebvre L.

Clin Genet. 2013 Oct;84(4):326-34. doi: 10.1111/cge.12143. Epub 2013 Apr 9. Review.

PMID:
23495910
19.

Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.

Weksberg R, Nishikawa J, Caluseriu O, Fei YL, Shuman C, Wei C, Steele L, Cameron J, Smith A, Ambus I, Li M, Ray PN, Sadowski P, Squire J.

Hum Mol Genet. 2001 Dec 15;10(26):2989-3000.

PMID:
11751681
20.

Brain abnormalities in patients with Beckwith-Wiedemann syndrome.

Gardiner K, Chitayat D, Choufani S, Shuman C, Blaser S, Terespolsky D, Farrell S, Reiss R, Wodak S, Pu S, Ray PN, Baskin B, Weksberg R.

Am J Med Genet A. 2012 Jun;158A(6):1388-94. doi: 10.1002/ajmg.a.35358. Epub 2012 May 14.

PMID:
22585446

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